ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4983C>A (p.Val1661=)

gnomAD frequency: 0.00511  dbSNP: rs61382101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001082155 SCV000756459 benign Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2025-01-06 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000711107 SCV000841434 benign not provided 2018-06-20 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002507070 SCV002794880 likely benign Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-08-13 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000711107 SCV005294983 benign not provided criteria provided, single submitter not provided

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